ENSG00000256269


Homo sapiens

Features
Gene ID: ENSG00000256269
  
Biological name :HMBS
  
Synonyms : HMBS / hydroxymethylbilane synthase / P08397
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q23.3
Gene start: 119084866
Gene end: 119093549
  
Corresponding Affymetrix probe sets: 203040_s_at (Human Genome U133 Plus 2.0 Array)   213344_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445599
Ensembl peptide - ENSP00000445429
Ensembl peptide - ENSP00000491061
Ensembl peptide - ENSP00000278715
Ensembl peptide - ENSP00000376584
Ensembl peptide - ENSP00000392041
Ensembl peptide - ENSP00000438424
Ensembl peptide - ENSP00000438726
Ensembl peptide - ENSP00000439904
Ensembl peptide - ENSP00000440092
Ensembl peptide - ENSP00000442079
Ensembl peptide - ENSP00000443058
Ensembl peptide - ENSP00000444730
Ensembl peptide - ENSP00000444817
Ensembl peptide - ENSP00000444849
NCBI entrez gene - 3145     See in Manteia.
OMIM - 609806
RefSeq - XM_017017629
RefSeq - NM_000190
RefSeq - NM_001024382
RefSeq - NM_001258208
RefSeq - NM_001258209
RefSeq - XM_005271531
RefSeq - XM_005271532
RefSeq - XM_005271533
RefSeq - XM_011542796
RefSeq Peptide - NP_001245138
RefSeq Peptide - NP_000181
RefSeq Peptide - NP_001019553
RefSeq Peptide - NP_001245137
swissprot - F5H4Y7
swissprot - F5GY90
swissprot - F5H0P4
swissprot - F5H226
swissprot - F5H345
swissprot - F5H4W5
swissprot - P08397
swissprot - A0A1W2PNU5
swissprot - F5H4X2
Ensembl - ENSG00000256269
  
Related genetic diseases (OMIM): 176000 - Porphyria, acute intermittent, 176000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmbsaENSDARG00000008840Danio rerio
 hmbsbENSDARG00000055991Danio rerio
 HMBSENSGALG00000042939Gallus gallus
 HmbsENSMUSG00000032126Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000860  Porphobilinogen deaminase
 IPR022417  Porphobilinogen deaminase, N-terminal
 IPR022418  Porphobilinogen deaminase, C-terminal
 IPR022419  Porphobilinogen deaminase, dipyrromethane cofactor binding site
 IPR036803  Porphobilinogen deaminase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process TAS
 biological_processGO:0018160 peptidyl-pyrromethane cofactor linkage IEA
 biological_processGO:0033014 tetrapyrrole biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004418 hydroxymethylbilane synthase activity TAS
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Heme biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000016 Urinary retention 
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000083 Renal failure 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000725 Psychotic episodes 
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 HP:0000738 Hallucinations 
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 HP:0000739 Anxiety 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001254 Lethargy 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001649 Tachycardia "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002017 Nausea and vomiting 
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 HP:0002018 Nausea 
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 HP:0002019 Constipation 
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 HP:0002027 Abdominal pain 
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 HP:0002039 Anorexia 
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 HP:0002203 Respiratory paralysis 
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 HP:0002385 Paraparesis 
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 HP:0002590 Paralytic ileus 
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 HP:0002829 Arthralgia 
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 HP:0002902 Hyponatremia 
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 HP:0003077 Hyperlipidemia 
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 HP:0003163 Elevated urinary delta-aminolevulinic acid 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003489 Acute episodes of neuropathic symptoms 
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 HP:0006597 Diaphragmatic paralysis 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012086 Abnormal urinary color "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson]
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 HP:0100518 Dysuria "Painful or difficult `urination` (GO:0060073)." [HPO:probinson]
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 HP:0100735 Hypertensive crisis 
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 HP:0100785 Insomnia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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